Canonical Allele Identifier: CA204044

Gene: POLR1C

Linked Data

• ClinVar Variation Id: 204592
• ClinVar RCV Id: RCV000186589 ; RCV000853238 ; RCV003387792
• dbSNP Id: rs796052127
• gnomAD v2: 6-43487520-G-A
• gnomAD v3: 6-43519782-G-A
• gnomAD v4: 6-43519782-G-A
• MyVariant Identifiers: chr6:g.43487520G>A (hg19) ; chr6:g.43519782G>A (hg38)
• PubMed: PMID:26151409

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43519782G>A , CM000668.2:g.43519782G>A	GRCh38
NC_000006.11:g.43487520G>A , CM000668.1:g.43487520G>A	GRCh37
NC_000006.10:g.43595498G>A	NCBI36
NG_028283.1:g.7744G>A
NG_028283.3:g.15081G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000607635.2:c.326G>A	ENSP00000496683.1:p.Arg109His
ENST00000642195.1:c.326G>A MANE Select	ENSP00000496044.1:p.Arg109His
ENST00000643341.1:c.326G>A	ENSP00000496018.1:p.Arg109His
ENST00000643799.1:c.326G>A	ENSP00000494529.1:p.Arg109His
ENST00000645141.1:c.326G>A	ENSP00000496755.1:p.Arg109His
ENST00000646188.1:c.161G>A	ENSP00000496001.1:p.Arg54His
ENST00000646433.1:c.326G>A	ENSP00000494368.1:p.Arg109His
ENST00000646700.1:c.326G>A	ENSP00000495521.1:p.Arg109His
ENST00000304004.7:c.326G>A	ENSP00000307212.3:p.Arg109His
ENST00000372344.6:c.326G>A	ENSP00000361419.2:p.Arg109His
ENST00000372389.7:c.326G>A	ENSP00000361465.3:p.Arg109His
ENST00000423780.1:c.324G>A
ENST00000428025.6:c.161G>A	ENSP00000395401.2:p.Arg54His
ENST00000455605.2:n.303G>A
ENST00000481352.6:n.382G>A
ENST00000488601.6:n.338G>A
NM_203290.2:c.326G>A	NP_976035.1:p.Arg109His
XM_005249491.1:c.326G>A	XP_005249548.1:p.Arg109His
XM_011515000.1:c.326G>A	XP_011513302.1:p.Arg109His
NM_001318876.1:c.326G>A	NP_001305805.1:p.Arg109His
NM_001363658.1:c.326G>A	NP_001350587.1:p.Arg109His
NM_203290.3:c.326G>A	NP_976035.1:p.Arg109His
NM_203290.4:c.326G>A MANE Select	NP_976035.1:p.Arg109His
NM_001363658.2:c.326G>A	NP_001350587.1:p.Arg109His
NM_001318876.2:c.326G>A	NP_001305805.1:p.Arg109His